ClinVar for MedGen (Select 57890) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076008	NM_001399.5(EDA):c.382del (p.Gln128fs)	EDA (Q128fs)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3076004	NC_000023.11:g.(?_69956687)_(69957126_?)del	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3075997	NC_000023.11:g.(?_69616225)_(69616454_?)del	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3068478	NM_001399.5(EDA):c.254dup (p.Thr86fs)	EDA (T86fs)	Duplication (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 3023488	NM_001399.5(EDA):c.197C>T (p.Ser66Leu)	EDA (S66L)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 3022281	NM_001399.5(EDA):c.1143G>T (p.Gly381=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3021375	NM_001399.5(EDA):c.273C>T (p.Ser91=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3019001	NM_001399.5(EDA):c.707-15T>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3014235	NM_001399.5(EDA):c.497C>T (p.Ala166Val)	EDA (A166V)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3007932	NM_001399.5(EDA):c.327G>C (p.Pro109=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2987777	NM_001399.5(EDA):c.810G>A (p.Val270=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2987560	NM_001399.5(EDA):c.924+14T>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2983628	NM_001399.5(EDA):c.707-17C>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2983022	NM_001399.5(EDA):c.502+10_502+14del	EDA	Deletion (frameshift variant +1 more)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2967361	NM_001399.5(EDA):c.462T>C (p.Val154=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2963880	NM_001399.5(EDA):c.924+9G>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2954664	NM_001399.5(EDA):c.986T>G (p.Phe329Cys)	EDA (F327C +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2920485	NM_001399.5(EDA):c.612G>A (p.Gly204=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2916905	NM_001399.5(EDA):c.527-19A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2907244	NM_001399.5(EDA):c.503-14T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2901427	NM_001399.5(EDA):c.925-17T>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2900223	NM_001399.5(EDA):c.794-14_794-12del	EDA	Deletion (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2899138	NM_001399.5(EDA):c.706+14T>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2898216	NM_001399.5(EDA):c.741+18C>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2893818	NM_001399.5(EDA):c.794-7T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2890603	NM_001399.5(EDA):c.925-11C>T	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2889951	NM_001399.5(EDA):c.1044C>T (p.Thr348=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2885481	NM_001399.5(EDA):c.924+15A>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2883009	NM_001399.5(EDA):c.526+17A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2882608	NM_001399.5(EDA):c.205C>T (p.Arg69Trp)	EDA (R69W)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2871008	NM_001399.5(EDA):c.831C>T (p.Ile277=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2864041	NM_001399.5(EDA):c.793+20C>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2859390	NM_001399.5(EDA):c.883del (p.Val295fs)	EDA (V295fs +1 more)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2858024	NM_001399.5(EDA):c.993G>A (p.Gln331=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2857815	NM_001399.5(EDA):c.706+8C>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2855912	NM_001399.5(EDA):c.459T>G (p.Arg153=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2853402	NM_001399.5(EDA):c.625C>T (p.Pro209Ser)	EDA (P209S)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2852235	NM_001399.5(EDA):c.527-9A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2850699	NM_001399.5(EDA):c.597C>T (p.Pro199=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2845463	NM_001399.5(EDA):c.897C>T (p.Gly299=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2841990	NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)	EDA	Deletion (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2841731	NM_001399.5(EDA):c.166C>T (p.Leu56=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2841483	NM_001399.5(EDA):c.321G>C (p.Gly107=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2840483	NM_001399.5(EDA):c.1010A>T (p.Glu337Val)	EDA (E332V +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2836470	NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)	EDA (A382S +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2835516	NM_001399.5(EDA):c.565G>A (p.Gly189Arg)	EDA (G189R)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2830542	NM_001399.5(EDA):c.532A>G (p.Lys178Glu)	EDA (K178E)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2828057	NM_001399.5(EDA):c.527-18del	EDA	Deletion (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2825570	NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)	EDA (I366F +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2823886	NM_001399.5(EDA):c.397-2A>T	EDA	Single nucleotide variant (splice acceptor variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2822020	NM_001399.5(EDA):c.572del (p.Pro191fs)	EDA (P191fs)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2816320	NM_001399.5(EDA):c.803G>T (p.Gly268Val)	EDA (G268V +1 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2813737	NM_001399.5(EDA):c.958T>C (p.Tyr320His)	EDA (Y318H +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2810309	NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)	EDA (T338A +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2809457	NM_001399.5(EDA):c.644G>A (p.Gly215Glu)	EDA (G215E)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2809152	NM_001399.5(EDA):c.895G>T (p.Gly299Cys)	EDA (G296C +1 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2808888	NM_001399.5(EDA):c.503-13A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2806159	NM_001399.5(EDA):c.149C>G (p.Ser50Trp)	EDA (S50W)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2805628	NM_001399.5(EDA):c.927A>G (p.Val309=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2802027	NM_001399.5(EDA):c.672T>C (p.Gly224=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2799014	NM_001399.5(EDA):c.288C>G (p.Leu96=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2798418	NM_001399.5(EDA):c.414C>T (p.Phe138=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2780430	NM_001399.5(EDA):c.741+17T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2780326	NM_001399.5(EDA):c.375T>C (p.Ser125=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2773022	NM_001399.5(EDA):c.225G>A (p.Glu75=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2772014	NM_001399.5(EDA):c.706+14T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2771349	NM_001399.5(EDA):c.925-13G>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2768449	NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)	EDA (A354T +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2767492	NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)	EDA (Y341* +2 more)	Single nucleotide variant (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2764719	NM_001399.5(EDA):c.924+4A>T	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2760701	NM_001399.5(EDA):c.707-7T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2760304	NM_001399.5(EDA):c.397-12T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2756886	NM_001399.5(EDA):c.636T>A (p.Thr212=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2751491	NM_001399.5(EDA):c.198G>A (p.Ser66=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2747311	NM_001399.5(EDA):c.526+20A>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2740960	NM_001399.5(EDA):c.243G>C (p.Ser81=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2740958	NM_001399.5(EDA):c.502+16T>C	EDA (L173S)	Single nucleotide variant (missense variant +1 more)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2740766	NM_001399.5(EDA):c.397-19G>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2740308	NM_001399.5(EDA):c.406T>C (p.Leu136=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2738589	NM_001399.5(EDA):c.706+13G>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2737245	NM_001399.5(EDA):c.948C>G (p.Asp316Glu)	EDA (D311E +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2737243	NM_001399.5(EDA):c.662G>A (p.Gly221Asp)	EDA (G221D)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2737242	NM_001399.5(EDA):c.170C>G (p.Thr57Arg)	EDA (T57R)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2737241	NM_001399.5(EDA):c.64_71dup (p.Cys25fs)	EDA (C25fs)	Duplication (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2737240	NM_001399.5(EDA):c.2T>G (p.Met1Arg)	EDA (M1R)	Single nucleotide variant (missense variant +1 more)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2736288	NM_001399.5(EDA):c.471T>C (p.Asn157=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2730974	NM_001399.5(EDA):c.930C>T (p.Tyr310=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2729786	NM_001399.5(EDA):c.960T>C (p.Tyr320=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2729571	NM_001399.5(EDA):c.397-16_397-11del	EDA	Deletion (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2727937	NM_001399.5(EDA):c.741+18C>T	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2726188	NM_001399.5(EDA):c.793+19T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2726126	NM_001399.5(EDA):c.707-18T>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2720515	NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)	EDA (R332C +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2718514	NM_001399.5(EDA):c.885A>G (p.Val295=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2716515	NM_001399.5(EDA):c.742-20_742-17del	EDA	Deletion (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2716467	NM_001399.5(EDA):c.660_668del (p.217PGP[2])	EDA	Deletion (inframe_deletion)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2706630	NM_001399.5(EDA):c.28G>T (p.Glu10Ter)	EDA (E10*)	Single nucleotide variant (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2706460	NM_001399.5(EDA):c.720del (p.Ala241fs)	EDA (A241fs)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2706068	NM_001399.5(EDA):c.243_251del (p.Pro84_Thr86del)	EDA	Deletion (inframe_deletion +1 more)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2701931	NM_001399.5(EDA):c.397-1G>C	EDA	Single nucleotide variant (splice acceptor variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic

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